Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B3
Variant:p.L73delFs

HSD17B3

206 papers

RefSeq Summary

This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor....

Pfam Domains

adh_shortaa 49–244UCSCshort chain dehydrogenase

Gene Aliases

HGNC Name

hydroxysteroid 17-beta dehydrogenase 3

HGNC Alias Symbol

SDR12C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000197.2
p.L73delFs
c.218delA
Surrounding Variants
8 papers
NM_000197.2
p.N74T
c.221A>C
1 paper
NM_000197.2
p.G72E
c.215G>A
1 paper
NM_000197.2
p.R71C
c.211C>T
1 paper
NM_000197.2
p.R71G
c.211C>G
2 papers
NM_000197.2
p.K70delFs
c.210delT
1 paper
NM_000197.2
p.V76V
c.228C>T
1 paper
NM_000197.2
p.K70fs
c.208_209fs
2 papers
NM_000197.2
p.K70E
c.208A>G
2 papers
NM_000197.2
p.K70fs
c.208_209fs
1 paper
NM_000197.2
p.A69G
c.206C>G
3 papers
NM_000197.2
p.L68R
c.203T>G
1 paper
NM_000197.2
p.L68fs
c.202_203fs
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